Incidental Mutation 'R3694:Syt7'
| ID |
268928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt7
|
| Ensembl Gene |
ENSMUSG00000024743 |
| Gene Name |
synaptotagmin VII |
| Synonyms |
B230112P13Rik |
| MMRRC Submission |
040689-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3694 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
10366454-10430544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 10413000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 265
(R265L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073899]
[ENSMUST00000076968]
[ENSMUST00000169121]
[ENSMUST00000223586]
[ENSMUST00000224135]
|
| AlphaFold |
Q9R0N7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073899
AA Change: R101L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000073560
Gene: ENSMUSG00000024743
AA Change: R101L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
18 |
40 |
N/A |
INTRINSIC |
|
C2
|
151 |
254 |
3.29e-25 |
SMART |
|
low complexity region
|
261 |
274 |
N/A |
INTRINSIC |
|
C2
|
282 |
396 |
4.98e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076968
AA Change: R309L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000076234
Gene: ENSMUSG00000024743
AA Change: R309L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
18 |
40 |
N/A |
INTRINSIC |
|
C2
|
195 |
298 |
3.29e-25 |
SMART |
|
low complexity region
|
305 |
318 |
N/A |
INTRINSIC |
|
C2
|
326 |
440 |
4.98e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169121
AA Change: R265L
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127973
Gene: ENSMUSG00000024743
AA Change: R265L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
121 |
N/A |
INTRINSIC |
|
C2
|
315 |
418 |
3.29e-25 |
SMART |
|
low complexity region
|
425 |
438 |
N/A |
INTRINSIC |
|
C2
|
446 |
560 |
4.98e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223586
AA Change: R145L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224135
AA Change: R216L
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225861
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have no gross abnormalities or obvious neurological defects. They do develop fibrosis in the skin and skeletal muscle over time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,284,443 (GRCm39) |
I97V |
possibly damaging |
Het |
| AI182371 |
A |
G |
2: 34,975,764 (GRCm39) |
C267R |
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp8b1 |
G |
A |
18: 64,666,792 (GRCm39) |
T1135I |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,844,199 (GRCm39) |
Y253H |
probably damaging |
Het |
| Bcas3 |
G |
T |
11: 85,692,628 (GRCm39) |
V338L |
probably benign |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Ccdc158 |
T |
C |
5: 92,757,904 (GRCm39) |
E1056G |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,681 (GRCm39) |
I722N |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,821 (GRCm39) |
Y552H |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,926,786 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Eya1 |
A |
G |
1: 14,299,725 (GRCm39) |
Y343H |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,324,454 (GRCm39) |
I291L |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,731,511 (GRCm39) |
N228D |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,553,230 (GRCm39) |
F393L |
probably damaging |
Het |
| Gpr63 |
A |
G |
4: 25,007,993 (GRCm39) |
Y239C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,133,827 (GRCm39) |
M408V |
probably benign |
Het |
| Lztr1 |
G |
A |
16: 17,326,925 (GRCm39) |
A12T |
possibly damaging |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mutyh |
T |
A |
4: 116,673,651 (GRCm39) |
S146T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,969,221 (GRCm39) |
K2460E |
probably damaging |
Het |
| Or4p18 |
A |
T |
2: 88,232,540 (GRCm39) |
I246N |
possibly damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,893 (GRCm39) |
I257T |
possibly damaging |
Het |
| Ppfia4 |
G |
T |
1: 134,240,305 (GRCm39) |
T896K |
probably damaging |
Het |
| Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Scn9a |
T |
G |
2: 66,392,749 (GRCm39) |
E281A |
probably benign |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,033 (GRCm39) |
F364L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,254,171 (GRCm39) |
S838P |
probably damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,372,205 (GRCm39) |
L5* |
probably null |
Het |
| Zfyve28 |
A |
G |
5: 34,374,812 (GRCm39) |
F401L |
probably damaging |
Het |
|
| Other mutations in Syt7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01956:Syt7
|
APN |
19 |
10,420,755 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0412:Syt7
|
UTSW |
19 |
10,421,444 (GRCm39) |
nonsense |
probably null |
|
|
R1068:Syt7
|
UTSW |
19 |
10,421,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1793:Syt7
|
UTSW |
19 |
10,421,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Syt7
|
UTSW |
19 |
10,395,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Syt7
|
UTSW |
19 |
10,416,577 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2170:Syt7
|
UTSW |
19 |
10,416,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2911:Syt7
|
UTSW |
19 |
10,420,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4330:Syt7
|
UTSW |
19 |
10,399,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Syt7
|
UTSW |
19 |
10,416,576 (GRCm39) |
nonsense |
probably null |
|
|
R4691:Syt7
|
UTSW |
19 |
10,403,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4732:Syt7
|
UTSW |
19 |
10,420,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Syt7
|
UTSW |
19 |
10,420,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Syt7
|
UTSW |
19 |
10,412,931 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5067:Syt7
|
UTSW |
19 |
10,420,222 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5069:Syt7
|
UTSW |
19 |
10,416,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5071:Syt7
|
UTSW |
19 |
10,420,792 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5372:Syt7
|
UTSW |
19 |
10,403,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5830:Syt7
|
UTSW |
19 |
10,399,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Syt7
|
UTSW |
19 |
10,420,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Syt7
|
UTSW |
19 |
10,421,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6833:Syt7
|
UTSW |
19 |
10,421,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Syt7
|
UTSW |
19 |
10,399,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7010:Syt7
|
UTSW |
19 |
10,395,354 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7078:Syt7
|
UTSW |
19 |
10,412,963 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7206:Syt7
|
UTSW |
19 |
10,395,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Syt7
|
UTSW |
19 |
10,421,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Syt7
|
UTSW |
19 |
10,421,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Syt7
|
UTSW |
19 |
10,416,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Syt7
|
UTSW |
19 |
10,421,459 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1176:Syt7
|
UTSW |
19 |
10,420,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Syt7
|
UTSW |
19 |
10,403,857 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGATCCTGTGGCTACCC -3'
(R):5'- TTCTCAGCTCAGAAAAGGACC -3'
Sequencing Primer
(F):5'- TACCCAGGCCCATGGAG -3'
(R):5'- CACGGAGAGGCATTTCGATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation